Milder phenotype with SCN1A truncation mutation other than SMEI

Pedigree, DHPLC and sequencing analysis of patient 1. (A) Pedigree. (B) DHPLC chromatograms of all family members. Arrow showed the mutation peak. (C) Partial nucleotide sequences of exon 11 of SCN1A, showing the heterozygous A>C substitution that corresponds to the truncation mutation S662X.

Pedigree, DHPLC and sequencing analysis of patient 2. (A) Pedigree. (B) DHPLC chromatograms of all family members. Arrow showed the mutation peak. (C) Partial nucleotide sequences of exon 3 of SCN1A, showing the heterozygous deletion c.[AT]433-434del that corresponds to the truncation mutation M145fsX148.